CW // Baby loss
The ultrasound did not show any abnormalities. The pregnancy went well, the only thing was that I was very worried since my first child died after living only one day. Nikitka was born by cesarean section and now I understand how right this decision was because, from the very beginning, he was weak. Although the doctors said that there was nothing critical, on the second day he was admitted to intensive care with low glucose because he did not wake up to eat. He did not have the strength to suck milk from my breast. On the third day, we were transferred to the unit for newborns with jaundice.
After two weeks we got home. He was behind in physical development, but only slightly. None of the doctors could diagnose him, since there were no obvious abnormalities. And everyone said the same thing: “he doesn’t have any specific disease, but we recommend that you contact a geneticist.” We went through a lot of tests, including karyotyping. But the result was written: “karyotype of a normal male person”
It should be said that he was superior in intelligence to his peers from the age of one. There was a problem with socialization and physical development. He was diagnosed with muscle dystonia. At the age of two, his left eye became cloudy. After an anti-inflammatory injection, everything returned to normal. But it was then that I began to notice how close he was looking and the convexity of the corneas. The ophthalmologists said ‘It seems ok to me.’ Unfortunately, it didn’t seem so.
At three and a half years old, Nikitka’s right eye became cloudy. The injection and anti-inflammatory drops helped. But then we did a full scan of the eye, and it was determined he had an extra thin cornea, grade 4 keratoconus, and destructive processes, that is, essentially the cornea is destroyed without collagen.
We went to kindergarten for a year and, in principle, everything was fine. He was wearing glasses and one day he collided with another boy head-on and his left eye burst. Even such a small blow played a fatal role. Then we did gene sequencing and the result came to us: “Ehlers-Danlos syndrome. Type “Brittle Cornea syndrome”.
It was terrible for me. I can’t convey what state I was in. They told me they had to remove the eye because they said the retina had detached. But I prayed that they would leave it, that they try to sew it up, that maybe someday when technology learns how to transplant a retina, we will be able to do this. And they closed the eye, although they removed the lens.
To everyone’s surprise, the stitches healed quickly, and when they were removed, they called me into the office and said something that I will remember for the rest of my life: “You have a very strange child. We didn’t expect it, but it looks like he can see with this eye. Part of the retina remains and it is functioning.” I was incredibly happy! For the first time, it seemed to me that Nikitka and I had a future again. My happiness lasted exactly eight days until his right eye became cloudy again. We spent a long time in the hospital and were discharged, saying that there was nothing more we could do. I frankly asked the doctor, “What should we do next?” And she honestly answered us “I don’t even know.”
This is why I decided to blog. Perhaps someone will see our story and help us with rehabilitation treatment or research. My life is like pieces that I decided to sew together. I want to try to find the answer, I can’t let him lose his sight. Nikita is very talented. At 2.5 years old he was already reading. Now he plays notes, subtracts and adds up to a thousand, learns mathematics, reads, writes in cursive, and has absolute pitch, which is very rare. I understand that genetics is why he is so smart and talented. But believe me, if I were given the choice to have him be an ordinary but healthy child, I would not think for a second and choose health. But I am very proud of my special Nikita and will not be able to forgive if I miss even the smallest opportunity and chance to save his sight.
Follow our journey on Instagram @vvita_nik
